ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Genetics in Ophthalmology, Institut Imagine and "pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Genetics in Ophthalmology, Institut Imagine: Collection method of the submission from Laboratory of Genetics in Ophthalmology, Institut Imagine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) rs771336246 0.00011
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) rs761554853 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) rs372066126 0.00002
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) rs1464167194 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) rs751881283
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651

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